ArticleClinical research in cardiology : official journal of the German Cardiac Society2019
Genetic basis of hypertrophic cardiomyopathy in children.
Article in Clinical research in cardiology : official journal of the German Cardiac Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.European journal of human genetics : EJHG · 2024Pooled it
- Five-year outcomes of next-generation sequencing implementation at a Brazilian public health system reference centre for rare diseases.Frontiers in genetics · 2026Article
- [Recent research on childhood hypertrophic cardiomyopathy caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Description of a Cohort with a New TruncatingGenes · 2023Article
- Marked Concentric Myocardial Hypertrophy with Good Postoperative Evolution in a 4 Years Old Child.Arquivos brasileiros de cardiologia · 2023Article
- Nucleoplasmic lamin C rapidly accumulates at sites of nuclear envelope rupture with BAF and cGAS.The Journal of cell biology · 2022Article
- Outcomes of hypertrophic cardiomyopathy in Japanese children: a retrospective cohort study.Heart and vessels · 2022Observational
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Left ventricular noncompaction and Fabry disease: two diagnoses in one heart?Clinical research in cardiology : official journal of the German Cardiac Society · 2021Article
- Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children.Biomolecules · 2021Review
- Hypertrophic cardiomyopathy in infant newborns of diabetic mother: a heterogeneous condition, the importance of anamnesis, physical examination and follow-up.Italian journal of pediatrics · 2021Article
- The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.Progress in pediatric cardiology · 2021Article
- The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".Journal of muscle research and cell motility · 2021Article
- Diagnostic value of the novel CMR parameter "myocardial transit-time" (MyoTT) for the assessment of microvascular changes in cardiac amyloidosis and hypertrophic cardiomyopathy.Clinical research in cardiology : official journal of the German Cardiac Society · 2021Article
- Genetic Factors Underlying Sudden Infant Death Syndrome.The application of clinical genetics · 2021Review
- Article
- Aetiology and 30-Year Long-Term Outcome of Children with Cardiomyopathy Necessitating Heart Transplantation.Journal of personalized medicine · 2020Article
- The genetics of hypertrophic cardiomyopathy.Global cardiology science & practice · 2018Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrevious investigations assessing the genetic cause of pediatric hypertrophic cardiomyopathy (HCM) found underlying genetic mutations in 50-60% of cases. The purpose of our study was to analyze whether this number can be augmented by applying next-generation sequencing and directing further diagnostics by discussing unsolved cases in a multidisciplinary board. METHODS AND
results42 patients with the diagnoses of HCM made before age 18 years were treated in our center from 2000 to 2016. Genetic analysis was performed in 36 subjects, a genetic defect was detected in 29 (78%) patients. 15 individuals (42%) had pathogenic variants in genes encoding sarcomere proteins, and 5 (14%) in genes coding for components of the RAS/MAPK signaling pathway. 4 subjects (11%) had mutations in the GAA gene (Pompe disease), and 3 (8%) had Frataxin repeat expansions (Friedreich's ataxia). One patient each showed a mutation in BAG3 and LMNA. Discussion of unsolved HCM cases after performing next-generation sequencing (28 genes) in an interdisciplinary board unraveled the genetic cause in 9 subjects (25%).
conclusionA definite genetic diagnosis can be reached in nearly 80% with HCM of childhood onset. Next-generation sequencing in conjunction with a multidisciplinary cooperation can enhance the diagnostic yield substantially. This may be important for risk stratification, treatment planning and genetic counseling.
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